ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	heart contraction (GO:0060047)	8.83606530
2	heart process (GO:0003015)	8.83606530
3	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	7.07135388
4	muscle filament sliding (GO:0030049)	6.91222776
5	actin-myosin filament sliding (GO:0033275)	6.91222776
6	actin-mediated cell contraction (GO:0070252)	5.83480479
7	muscle atrophy (GO:0014889)	5.64297157
8	striated muscle atrophy (GO:0014891)	5.58616479
9	negative regulation of protein localization to cell surface (GO:2000009)	5.54038514
10	protein neddylation (GO:0045116)	5.41207522
11	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	5.28409206
12	intraciliary transport (GO:0042073)	5.22579980
13	ventricular cardiac muscle tissue morphogenesis (GO:0055010)	5.08383160
14	skeletal muscle adaptation (GO:0043501)	4.90063921
15	adult feeding behavior (GO:0008343)	4.73283627
16	positive regulation of ATP catabolic process (GO:1903291)	4.69827978
17	positive regulation of ATPase activity (GO:0032781)	4.69827978
18	sarcomere organization (GO:0045214)	4.60545647
19	prenylation (GO:0097354)	4.59695600
20	protein prenylation (GO:0018342)	4.59695600
21	cardiac myofibril assembly (GO:0055003)	4.36134928
22	organelle disassembly (GO:1903008)	4.35187019
23	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	4.33905657
24	cardiac muscle tissue morphogenesis (GO:0055008)	4.11646263
25	actin filament-based movement (GO:0030048)	4.11015053
26	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	4.04336380
27	cardiac muscle contraction (GO:0060048)	3.98467168
28	replication fork processing (GO:0031297)	3.97843147
29	detection of calcium ion (GO:0005513)	3.94781934
30	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.91461072
31	histone H2A acetylation (GO:0043968)	3.88125410
32	sarcoplasmic reticulum calcium ion transport (GO:0070296)	3.84323401
33	response to redox state (GO:0051775)	3.78111457
34	actomyosin structure organization (GO:0031032)	3.76271703
35	ribonucleoprotein complex disassembly (GO:0032988)	3.71327667
36	regulation of actin filament-based movement (GO:1903115)	3.69105329
37	positive regulation of potassium ion transmembrane transport (GO:1901381)	3.67112401
38	muscle tissue morphogenesis (GO:0060415)	3.66785736
39	negative regulation of potassium ion transmembrane transport (GO:1901380)	3.64743528
40	regulation of ATP catabolic process (GO:1903289)	3.59090428
41	regulation of ATPase activity (GO:0043462)	3.59090428
42	toxin metabolic process (GO:0009404)	3.45716872
43	ventricular system development (GO:0021591)	3.44283004
44	regulation of striated muscle contraction (GO:0006942)	3.43556655
45	cilium movement (GO:0003341)	3.39762501
46	myofibril assembly (GO:0030239)	3.34195549
47	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	3.33491277
48	positive regulation of action potential (GO:0045760)	3.23886051
49	resolution of meiotic recombination intermediates (GO:0000712)	3.17965361
50	epithelial cilium movement (GO:0003351)	3.16785348
51	short-term memory (GO:0007614)	3.16152422
52	DNA double-strand break processing (GO:0000729)	3.16099744
53	protein complex biogenesis (GO:0070271)	3.15637338
54	ADP metabolic process (GO:0046031)	3.04934595
55	regulation of type B pancreatic cell apoptotic process (GO:2000674)	3.01695886
56	mitochondrial respiratory chain complex assembly (GO:0033108)	2.99751263
57	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	2.99292707
58	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.97617238
59	NADH dehydrogenase complex assembly (GO:0010257)	2.97617238
60	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.97617238
61	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.91504868
62	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	2.90034651
63	transcription from mitochondrial promoter (GO:0006390)	2.89350251
64	CENP-A containing nucleosome assembly (GO:0034080)	2.88799396
65	lysine catabolic process (GO:0006554)	2.88052581
66	lysine metabolic process (GO:0006553)	2.88052581
67	positive regulation of potassium ion transport (GO:0043268)	2.87896634
68	cellular response to dexamethasone stimulus (GO:0071549)	2.87373402
69	C4-dicarboxylate transport (GO:0015740)	2.86022796
70	centriole replication (GO:0007099)	2.85881041
71	ventricular cardiac muscle cell action potential (GO:0086005)	2.83762244
72	potassium ion export (GO:0071435)	2.82581363
73	peptidyl-histidine modification (GO:0018202)	2.81062053
74	regulation of protein glycosylation (GO:0060049)	2.79991973
75	DNA ligation (GO:0006266)	2.78885607
76	intra-S DNA damage checkpoint (GO:0031573)	2.76391497
77	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.72486976
78	rRNA modification (GO:0000154)	2.70063861
79	histone exchange (GO:0043486)	2.68531828
80	rRNA methylation (GO:0031167)	2.67989391
81	cilium or flagellum-dependent cell motility (GO:0001539)	2.67296118
82	kinetochore assembly (GO:0051382)	2.66817140
83	chromatin remodeling at centromere (GO:0031055)	2.66778838
84	secondary metabolite biosynthetic process (GO:0044550)	2.64466827
85	regulation of mitochondrial translation (GO:0070129)	2.64400281
86	seminiferous tubule development (GO:0072520)	2.63827010
87	response to dexamethasone (GO:0071548)	2.63454784
88	kinetochore organization (GO:0051383)	2.62429581
89	striated muscle contraction (GO:0006941)	2.62211989
90	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.62171412
91	positive regulation of mitochondrial fission (GO:0090141)	2.60507422
92	positive regulation of ion transmembrane transporter activity (GO:0032414)	2.58432916
93	melanin biosynthetic process (GO:0042438)	2.50246859
94	cullin deneddylation (GO:0010388)	2.45156193
95	tachykinin receptor signaling pathway (GO:0007217)	2.44080249
96	embryonic heart tube development (GO:0035050)	2.43026647
97	cilium assembly (GO:0042384)	2.41220456
98	cilium organization (GO:0044782)	2.40311892
99	negative regulation of potassium ion transport (GO:0043267)	2.40198475
100	striatum development (GO:0021756)	2.39848944

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.01762275
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.63605191
3	IGF1R_20145208_ChIP-Seq_DFB_Human	3.28756499
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.19272203
5	EZH2_22144423_ChIP-Seq_EOC_Human	3.14703784
6	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.02368702
7	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.52779969
8	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.42500225
9	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.34791280
10	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.34418238
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.34293662
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.27844953
13	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.23486668
14	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.14527929
15	FUS_26573619_Chip-Seq_HEK293_Human	2.09955408
16	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.07594844
17	VDR_22108803_ChIP-Seq_LS180_Human	1.95453999
18	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.87932641
19	P300_19829295_ChIP-Seq_ESCs_Human	1.87163123
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.86525703
21	HTT_18923047_ChIP-ChIP_STHdh_Human	1.86250789
22	ELK1_19687146_ChIP-ChIP_HELA_Human	1.85786940
23	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.85420794
24	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.81954297
25	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.79658407
26	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.76343539
27	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.75654484
28	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.74565690
29	ZNF274_21170338_ChIP-Seq_K562_Hela	1.74135584
30	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.72674702
31	TAF15_26573619_Chip-Seq_HEK293_Human	1.70594825
32	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.69209573
33	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.67975017
34	AR_21909140_ChIP-Seq_LNCAP_Human	1.67550864
35	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.67324111
36	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.66519316
37	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.64163346
38	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.60836919
39	EWS_26573619_Chip-Seq_HEK293_Human	1.58143661
40	SMAD4_21799915_ChIP-Seq_A2780_Human	1.57266420
41	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.56376723
42	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.55189263
43	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.50479615
44	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.49347538
45	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41398621
46	STAT3_23295773_ChIP-Seq_U87_Human	1.41108463
47	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.40502513
48	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.39429060
49	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.38267643
50	VDR_23849224_ChIP-Seq_CD4+_Human	1.37276552
51	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.31614740
52	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.30699263
53	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.30566322
54	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.26469683
55	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.26430300
56	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.25755925
57	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.23483503
58	TCF4_23295773_ChIP-Seq_U87_Human	1.23107574
59	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.22415330
60	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.21496154
61	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.20360764
62	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.20345714
63	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.20341518
64	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.17274166
65	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.17191916
66	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.17173237
67	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.16944278
68	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.16326329
69	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.15910286
70	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.15749286
71	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.14447935
72	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.13642504
73	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.13378255
74	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.12886562
75	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.12373792
76	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.10685656
77	PHF8_20622853_ChIP-Seq_HELA_Human	1.10667683
78	FOXP3_21729870_ChIP-Seq_TREG_Human	1.08141894
79	P53_22387025_ChIP-Seq_ESCs_Mouse	1.07336427
80	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.05533769
81	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.04444566
82	TCF4_22108803_ChIP-Seq_LS180_Human	1.04357031
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.04054303
84	RBPJ_21746931_ChIP-Seq_IB4_Human	1.02032489
85	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.01866555
86	NFYB_21822215_ChIP-Seq_K562_Human	1.01675572
87	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.01423842
88	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.01324137
89	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.01273780
90	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.00859995
91	ETV1_20927104_ChIP-Seq_GIST48_Human	1.00797463
92	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.00757482
93	NFYA_21822215_ChIP-Seq_K562_Human	0.97889329
94	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.97830444
95	BCAT_22108803_ChIP-Seq_LS180_Human	0.97646103
96	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97038128
97	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.95799687
98	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.94920219
99	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.94321922
100	TBL1_22424771_ChIP-Seq_293T_Human	0.94185748

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	8.48898530
2	MP0004084_abnormal_cardiac_muscle	7.62437820
3	MP0004215_abnormal_myocardial_fiber	6.03511263
4	MP0004036_abnormal_muscle_relaxation	4.49874977
5	MP0003137_abnormal_impulse_conducting	3.48611229
6	MP0005330_cardiomyopathy	3.37290278
7	MP0008775_abnormal_heart_ventricle	2.85887091
8	MP0003646_muscle_fatigue	2.46271187
9	MP0003828_pulmonary_edema	2.41704833
10	MP0008004_abnormal_stomach_pH	2.22203820
11	MP0000751_myopathy	2.16913782
12	MP0004145_abnormal_muscle_electrophysio	2.01513626
13	MP0006072_abnormal_retinal_apoptosis	1.99566810
14	MP0000749_muscle_degeneration	1.98362196
15	MP0002972_abnormal_cardiac_muscle	1.98061732
16	MP0006138_congestive_heart_failure	1.97308051
17	MP0002127_abnormal_cardiovascular_syste	1.96478621
18	MP0002269_muscular_atrophy	1.77069837
19	MP0005620_abnormal_muscle_contractility	1.74659915
20	MP0004085_abnormal_heartbeat	1.71431555
21	MP0004087_abnormal_muscle_fiber	1.53494020
22	MP0010386_abnormal_urinary_bladder	1.53443287
23	MP0005670_abnormal_white_adipose	1.38831093
24	MP0010030_abnormal_orbit_morphology	1.38275237
25	MP0005385_cardiovascular_system_phenoty	1.34830484
26	MP0001544_abnormal_cardiovascular_syste	1.34830484
27	MP0010368_abnormal_lymphatic_system	1.34163724
28	MP0001984_abnormal_olfaction	1.25378133
29	MP0010630_abnormal_cardiac_muscle	1.25074305
30	MP0008058_abnormal_DNA_repair	1.25001511
31	MP0005253_abnormal_eye_physiology	1.24456204
32	MP0003221_abnormal_cardiomyocyte_apopto	1.20328675
33	MP0008995_early_reproductive_senescence	1.19555345
34	MP0008789_abnormal_olfactory_epithelium	1.19463345
35	MP0002102_abnormal_ear_morphology	1.18577275
36	MP0003195_calcinosis	1.17027297
37	MP0003186_abnormal_redox_activity	1.11584210
38	MP0000343_altered_response_to	1.10088832
39	MP0004510_myositis	1.07705259
40	MP0006036_abnormal_mitochondrial_physio	1.00466731
41	MP0000372_irregular_coat_pigmentation	0.95547398
42	MP0001485_abnormal_pinna_reflex	0.95142431
43	MP0002234_abnormal_pharynx_morphology	0.95131694
44	MP0005503_abnormal_tendon_morphology	0.90159427
45	MP0009697_abnormal_copulation	0.89698250
46	MP0005551_abnormal_eye_electrophysiolog	0.87439222
47	MP0002090_abnormal_vision	0.84604018
48	MP0005187_abnormal_penis_morphology	0.83325445
49	MP0005666_abnormal_adipose_tissue	0.83263181
50	MP0005499_abnormal_olfactory_system	0.82088151
51	MP0005394_taste/olfaction_phenotype	0.82088151
52	MP0006035_abnormal_mitochondrial_morpho	0.81757423
53	MP0002282_abnormal_trachea_morphology	0.78737941
54	MP0005171_absent_coat_pigmentation	0.76905637
55	MP0008961_abnormal_basal_metabolism	0.74990798
56	MP0010094_abnormal_chromosome_stability	0.74703853
57	MP0003119_abnormal_digestive_system	0.73820120
58	MP0004484_altered_response_of	0.73433750
59	MP0003786_premature_aging	0.72376753
60	MP0003718_maternal_effect	0.72143257
61	MP0002332_abnormal_exercise_endurance	0.72122604
62	MP0002938_white_spotting	0.72048056
63	MP0001529_abnormal_vocalization	0.69096266
64	MP0000013_abnormal_adipose_tissue	0.68990483
65	MP0003937_abnormal_limbs/digits/tail_de	0.68502892
66	MP0006292_abnormal_olfactory_placode	0.66951215
67	MP0006054_spinal_hemorrhage	0.66656885
68	MP0003984_embryonic_growth_retardation	0.65752591
69	MP0005451_abnormal_body_composition	0.65485857
70	MP0003787_abnormal_imprinting	0.65390142
71	MP0002653_abnormal_ependyma_morphology	0.65232214
72	MP0005275_abnormal_skin_tensile	0.64545230
73	MP0000647_abnormal_sebaceous_gland	0.64343450
74	MP0000266_abnormal_heart_morphology	0.59821777
75	MP0002088_abnormal_embryonic_growth/wei	0.59780136
76	MP0002233_abnormal_nose_morphology	0.59452422
77	MP0003806_abnormal_nucleotide_metabolis	0.58545978
78	MP0008932_abnormal_embryonic_tissue	0.57950155
79	MP0002133_abnormal_respiratory_system	0.57288077
80	MP0005388_respiratory_system_phenotype	0.57288077
81	MP0002106_abnormal_muscle_physiology	0.57269936
82	MP0005266_abnormal_metabolism	0.55618499
83	MP0005647_abnormal_sex_gland	0.55474518
84	MP0005408_hypopigmentation	0.55249612
85	MP0005380_embryogenesis_phenotype	0.54242126
86	MP0001672_abnormal_embryogenesis/_devel	0.54242126
87	MP0004957_abnormal_blastocyst_morpholog	0.52887021
88	MP0002751_abnormal_autonomic_nervous	0.52632448
89	MP0001293_anophthalmia	0.52617823
90	MP0002254_reproductive_system_inflammat	0.50862080
91	MP0001299_abnormal_eye_distance/	0.50317298
92	MP0005369_muscle_phenotype	0.49747123
93	MP0000358_abnormal_cell_content/	0.48889078
94	MP0000049_abnormal_middle_ear	0.47140738
95	MP0000759_abnormal_skeletal_muscle	0.46249672
96	MP0001697_abnormal_embryo_size	0.46090595
97	MP0003890_abnormal_embryonic-extraembry	0.46061276
98	MP0008872_abnormal_physiological_respon	0.45812803
99	MP0005391_vision/eye_phenotype	0.45309200
100	MP0003943_abnormal_hepatobiliary_system	0.43138009

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Sudden death (HP:0001699)	5.85679069
2	Ventricular tachycardia (HP:0004756)	5.60338728
3	Right ventricular cardiomyopathy (HP:0011663)	5.20783931
4	Generalized aminoaciduria (HP:0002909)	4.87448341
5	Renal cortical cysts (HP:0000803)	4.54127966
6	Hepatic necrosis (HP:0002605)	3.95567806
7	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.72714825
8	Proximal tubulopathy (HP:0000114)	3.63740086
9	Abnormality of the renal cortex (HP:0011035)	3.59207985
10	Lipoatrophy (HP:0100578)	3.58119644
11	Nausea (HP:0002018)	3.55713853
12	Acute necrotizing encephalopathy (HP:0006965)	3.49106782
13	Atrial fibrillation (HP:0005110)	3.48644749
14	Acute encephalopathy (HP:0006846)	3.47988368
15	Hyperglycinuria (HP:0003108)	3.40994066
16	Hypoglycemic coma (HP:0001325)	3.32335437
17	Exercise-induced myalgia (HP:0003738)	3.22135622
18	Primary atrial arrhythmia (HP:0001692)	3.14833088
19	Abnormality of midbrain morphology (HP:0002418)	3.13306613
20	Molar tooth sign on MRI (HP:0002419)	3.13306613
21	Supraventricular tachycardia (HP:0004755)	3.06864991
22	True hermaphroditism (HP:0010459)	3.06591368
23	Nephronophthisis (HP:0000090)	3.01078928
24	Supraventricular arrhythmia (HP:0005115)	2.96002531
25	Cerebral edema (HP:0002181)	2.91634763
26	Dilated cardiomyopathy (HP:0001644)	2.90015903
27	Abnormal mitochondria in muscle tissue (HP:0008316)	2.89798297
28	Exercise-induced muscle cramps (HP:0003710)	2.88416667
29	Progressive macrocephaly (HP:0004481)	2.86823252
30	Pancreatic fibrosis (HP:0100732)	2.85961572
31	Hepatocellular necrosis (HP:0001404)	2.83422624
32	Medial flaring of the eyebrow (HP:0010747)	2.79619609
33	Syncope (HP:0001279)	2.73564259
34	Congenital primary aphakia (HP:0007707)	2.64351253
35	Abnormal ciliary motility (HP:0012262)	2.63373061
36	Hyporeflexia of lower limbs (HP:0002600)	2.63026736
37	Bell-shaped thorax (HP:0001591)	2.60759433
38	Pancreatic cysts (HP:0001737)	2.58464643
39	Increased CSF lactate (HP:0002490)	2.57221163
40	Chronic hepatic failure (HP:0100626)	2.51900810
41	Gait imbalance (HP:0002141)	2.48723230
42	Occipital encephalocele (HP:0002085)	2.47862591
43	Abnormality of fatty-acid metabolism (HP:0004359)	2.46160307
44	Abnormality of serine family amino acid metabolism (HP:0010894)	2.42531816
45	Abnormality of glycine metabolism (HP:0010895)	2.42531816
46	Tubular atrophy (HP:0000092)	2.40308521
47	Mitochondrial inheritance (HP:0001427)	2.36273861
48	Left ventricular hypertrophy (HP:0001712)	2.35454448
49	Abnormal hair whorl (HP:0010721)	2.34630170
50	Rhinitis (HP:0012384)	2.29829780
51	Abnormal respiratory motile cilium physiology (HP:0012261)	2.29660529
52	Abnormality of the renal medulla (HP:0100957)	2.22344513
53	Hypoplastic ischia (HP:0003175)	2.18927365
54	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.18600941
55	Tubulointerstitial nephritis (HP:0001970)	2.18310582
56	Ependymoma (HP:0002888)	2.14154838
57	Neonatal death (HP:0003811)	2.12489325
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.11481976
59	Absent/shortened dynein arms (HP:0200106)	2.11481976
60	Vaginal atresia (HP:0000148)	2.09847056
61	Genital tract atresia (HP:0001827)	2.08615934
62	Postaxial foot polydactyly (HP:0001830)	2.08026126
63	Degeneration of anterior horn cells (HP:0002398)	2.06288127
64	Abnormality of the anterior horn cell (HP:0006802)	2.06288127
65	Metaphyseal dysplasia (HP:0100255)	2.04654614
66	Biliary tract neoplasm (HP:0100574)	2.04358758
67	Nephrogenic diabetes insipidus (HP:0009806)	2.03979229
68	Abnormality of the ischium (HP:0003174)	2.03194028
69	Glycosuria (HP:0003076)	2.01411369
70	Abnormality of urine glucose concentration (HP:0011016)	2.01411369
71	Volvulus (HP:0002580)	2.01217410
72	Abolished electroretinogram (ERG) (HP:0000550)	2.01168555
73	Ventricular arrhythmia (HP:0004308)	2.00009227
74	Poor coordination (HP:0002370)	1.99659618
75	Tongue fasciculations (HP:0001308)	1.97541602
76	Frequent falls (HP:0002359)	1.97125517
77	Dicarboxylic aciduria (HP:0003215)	1.95317271
78	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.95317271
79	Abnormality of the labia minora (HP:0012880)	1.94593531
80	Congenital hepatic fibrosis (HP:0002612)	1.93444643
81	Abnormal biliary tract physiology (HP:0012439)	1.93071969
82	Bile duct proliferation (HP:0001408)	1.93071969
83	Prolonged QT interval (HP:0001657)	1.92695566
84	Bifid tongue (HP:0010297)	1.92498140
85	Cystic liver disease (HP:0006706)	1.89594599
86	Hypokinesia (HP:0002375)	1.87523687
87	Redundant skin (HP:0001582)	1.84796472
88	Limb-girdle muscle atrophy (HP:0003797)	1.84004920
89	Congenital, generalized hypertrichosis (HP:0004540)	1.83627977
90	Amniotic constriction ring (HP:0009775)	1.82139754
91	Abnormality of placental membranes (HP:0011409)	1.82139754
92	Postaxial hand polydactyly (HP:0001162)	1.79660540
93	Type 2 muscle fiber atrophy (HP:0003554)	1.73278811
94	Wide anterior fontanel (HP:0000260)	1.72372400
95	Decreased testicular size (HP:0008734)	1.71816766
96	Anencephaly (HP:0002323)	1.68229818
97	Abnormal respiratory motile cilium morphology (HP:0005938)	1.66618341
98	Abnormal respiratory epithelium morphology (HP:0012253)	1.66618341
99	Spinal muscular atrophy (HP:0007269)	1.66141538
100	Optic disc pallor (HP:0000543)	1.64081320

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDC42BPA	3.76722225
2	DAPK3	3.01201102
3	MAP3K5	2.97588534
4	DMPK	2.87591742
5	NUAK1	2.84339206
6	PLK4	2.64039517
7	ROCK1	2.45386991
8	PINK1	2.42091228
9	BMPR1B	2.23033828
10	ERBB3	2.19826720
11	WNK3	2.09256823
12	FRK	2.01043069
13	MAP3K4	1.93044267
14	MAP4K2	1.88962033
15	TRIM28	1.85733472
16	BCKDK	1.73026832
17	TIE1	1.71328350
18	INSRR	1.65357183
19	MAPK13	1.62681107
20	LATS1	1.61019179
21	NEK1	1.56246900
22	PRKCE	1.56148646
23	TNIK	1.38721417
24	BUB1	1.36366114
25	BRSK2	1.32622340
26	ZAK	1.32302596
27	MAP2K7	1.29385686
28	MKNK2	1.28985865
29	CCNB1	1.28552664
30	NEK9	1.26904280
31	PTK2B	1.24899399
32	PLK3	1.19813238
33	MYLK	1.17348813
34	BCR	1.15265383
35	MUSK	1.11141146
36	TGFBR2	1.10288938
37	EPHA4	1.09442986
38	WEE1	1.08381555
39	STK38L	1.05908439
40	CAMK2D	1.05423603
41	SRPK1	0.99371063
42	PLK1	0.97917616
43	PRKG2	0.97556148
44	UHMK1	0.95888541
45	FGFR2	0.95619632
46	FLT3	0.95178772
47	ACVR1B	0.94610825
48	STK3	0.92937859
49	STK16	0.89316023
50	EPHA2	0.88512659
51	PRKD1	0.86951814
52	MKNK1	0.85462453
53	MST4	0.81643669
54	TTK	0.78256373
55	CAMK2A	0.77904298
56	NEK2	0.77882758
57	PLK2	0.77340468
58	PNCK	0.76717179
59	CSNK1G1	0.76345870
60	CLK1	0.75342189
61	OBSCN	0.75232676
62	MAP3K12	0.72868610
63	AURKB	0.71138303
64	CSNK1G3	0.68453567
65	PRKG1	0.67991188
66	NLK	0.67036070
67	CDC7	0.64304363
68	AKT3	0.63759078
69	ATM	0.63092721
70	LATS2	0.62076731
71	MAPKAPK3	0.60482157
72	RAF1	0.60176905
73	CSNK1G2	0.59798881
74	VRK1	0.58573567
75	PRKAA2	0.58119144
76	PAK3	0.57632390
77	CDK3	0.55893818
78	EPHA3	0.54712044
79	TEC	0.54527292
80	PRKACB	0.53900407
81	EIF2AK3	0.52965817
82	OXSR1	0.52061916
83	ATR	0.51371560
84	CSNK1A1L	0.50730277
85	EIF2AK1	0.49623303
86	GRK1	0.46923600
87	TAOK1	0.45675154
88	FER	0.45661195
89	PRKACA	0.45265021
90	CAMK2B	0.40477419
91	CSF1R	0.40212498
92	PRKACG	0.40199516
93	PKN1	0.40107676
94	KIT	0.39894816
95	STK39	0.38753152
96	EIF2AK2	0.38613311
97	MAPK4	0.37279933
98	NTRK2	0.37029041
99	DAPK1	0.35315372
100	CSNK2A1	0.32659194

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Cardiac muscle contraction_Homo sapiens_hsa04260	4.31014530
2	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	3.71683167
3	Dilated cardiomyopathy_Homo sapiens_hsa05414	3.42747665
4	Protein export_Homo sapiens_hsa03060	2.72574392
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.72470358
6	Proteasome_Homo sapiens_hsa03050	2.71951244
7	Parkinsons disease_Homo sapiens_hsa05012	2.54023642
8	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.36256343
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.34019519
10	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.27994009
11	Propanoate metabolism_Homo sapiens_hsa00640	2.16654567
12	Huntingtons disease_Homo sapiens_hsa05016	2.15589401
13	Mismatch repair_Homo sapiens_hsa03430	2.13732216
14	Homologous recombination_Homo sapiens_hsa03440	2.02957884
15	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.78725194
16	RNA polymerase_Homo sapiens_hsa03020	1.73734368
17	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.62979533
18	Non-homologous end-joining_Homo sapiens_hsa03450	1.58195201
19	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.56793479
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.54204121
21	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.48226751
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.46804888
23	Alzheimers disease_Homo sapiens_hsa05010	1.44759210
24	RNA degradation_Homo sapiens_hsa03018	1.39621217
25	Purine metabolism_Homo sapiens_hsa00230	1.36764832
26	Nucleotide excision repair_Homo sapiens_hsa03420	1.32357810
27	One carbon pool by folate_Homo sapiens_hsa00670	1.29316126
28	Base excision repair_Homo sapiens_hsa03410	1.27817081
29	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.23651820
30	Arginine and proline metabolism_Homo sapiens_hsa00330	1.23262222
31	RNA transport_Homo sapiens_hsa03013	1.17191676
32	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.17062225
33	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.05883458
34	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.04517369
35	Basal transcription factors_Homo sapiens_hsa03022	1.04211731
36	ECM-receptor interaction_Homo sapiens_hsa04512	1.03357305
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.00964941
38	Glutathione metabolism_Homo sapiens_hsa00480	1.00826388
39	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.97257459
40	Nicotine addiction_Homo sapiens_hsa05033	0.96085389
41	DNA replication_Homo sapiens_hsa03030	0.95045591
42	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.94617867
43	Collecting duct acid secretion_Homo sapiens_hsa04966	0.90608436
44	Spliceosome_Homo sapiens_hsa03040	0.90454960
45	Peroxisome_Homo sapiens_hsa04146	0.86449988
46	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.84368078
47	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.84153951
48	Tight junction_Homo sapiens_hsa04530	0.83287881
49	Selenocompound metabolism_Homo sapiens_hsa00450	0.82602021
50	Pyrimidine metabolism_Homo sapiens_hsa00240	0.82230721
51	Oocyte meiosis_Homo sapiens_hsa04114	0.80423439
52	Pyruvate metabolism_Homo sapiens_hsa00620	0.79399190
53	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.79300899
54	Adherens junction_Homo sapiens_hsa04520	0.78612313
55	Carbon metabolism_Homo sapiens_hsa01200	0.78388889
56	Focal adhesion_Homo sapiens_hsa04510	0.75848891
57	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.75814224
58	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.74674586
59	Phototransduction_Homo sapiens_hsa04744	0.74383931
60	Olfactory transduction_Homo sapiens_hsa04740	0.73782974
61	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.70718868
62	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.67743124
63	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.66858154
64	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.66426414
65	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.65822664
66	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.61987446
67	Alcoholism_Homo sapiens_hsa05034	0.61310435
68	Taste transduction_Homo sapiens_hsa04742	0.59762859
69	Metabolic pathways_Homo sapiens_hsa01100	0.59374033
70	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.58802273
71	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.58127758
72	Cocaine addiction_Homo sapiens_hsa05030	0.57824707
73	Circadian entrainment_Homo sapiens_hsa04713	0.57540949
74	Sulfur relay system_Homo sapiens_hsa04122	0.54985054
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.54061698
76	Chemical carcinogenesis_Homo sapiens_hsa05204	0.51992314
77	Cell cycle_Homo sapiens_hsa04110	0.51647246
78	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.50769335
79	Calcium signaling pathway_Homo sapiens_hsa04020	0.48792014
80	beta-Alanine metabolism_Homo sapiens_hsa00410	0.48131687
81	Fatty acid degradation_Homo sapiens_hsa00071	0.48112784
82	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.47016129
83	ABC transporters_Homo sapiens_hsa02010	0.44284877
84	Melanogenesis_Homo sapiens_hsa04916	0.43578659
85	Insulin secretion_Homo sapiens_hsa04911	0.41564361
86	Circadian rhythm_Homo sapiens_hsa04710	0.41551499
87	Linoleic acid metabolism_Homo sapiens_hsa00591	0.41064443
88	Amphetamine addiction_Homo sapiens_hsa05031	0.41010572
89	Regulation of autophagy_Homo sapiens_hsa04140	0.40647216
90	Butanoate metabolism_Homo sapiens_hsa00650	0.38322792
91	Fatty acid elongation_Homo sapiens_hsa00062	0.37848327
92	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.37076270
93	Nitrogen metabolism_Homo sapiens_hsa00910	0.36463397
94	Morphine addiction_Homo sapiens_hsa05032	0.34693251
95	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.32394503
96	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.31958904
97	Basal cell carcinoma_Homo sapiens_hsa05217	0.31156748
98	Phenylalanine metabolism_Homo sapiens_hsa00360	0.29512359
99	Lysine degradation_Homo sapiens_hsa00310	0.29258722
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.28488466

INMT-FAM188B

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

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